Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Ala1762Asp (p.A1762D)
(
ENST00000370225.4 )
ABCA4 p.Ala1762Asp (p.A1762D) ( ENST00000370225.4 ) - Associated Disease
- Severe early-childhood-onset retinal dystrophy
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.5285C>A (p.Ala1762Asp) AND Severe early-childhood-onset retinal dystrophy
- ClinVar Allele ID
- 22948
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.5285C>A
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.5063C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2008-07-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008368
- ClinVar Disease
- Severe early-childhood-onset retinal dystrophy
- Observed Origin Sample
- germline
- Pubmed
- 18285826
- Pubmed
- 15192030
Drugs